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Center for Computational Systems Medicine
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Protein Summary

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AS Summary

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Protein Functional Features

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Gene Isoform Structures and Expression Levels

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Protein Structures

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pLDDT Score Distribution

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Ramachandran Plot of Protein Structures

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Potential Active Site Information

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Protein Structure and Feature Comparision

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Protein-Protein Interaction

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Related Drugs

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Related Diseases

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Clinically Important Variants

Protein:SLC25A12

Protein Summary

check button Gene summary
Gene name: SLC25A12
ASpdb.0 ID: 8604
Gene
Gene symbol

SLC25A12

Gene ID

8604

Gene namesolute carrier family 25 member 12
SynonymsAGC1|ARALAR|DEE39|EIEE39
Cytomap

2q31.1

Type of geneprotein-coding
Descriptionelectrogenic aspartate/glutamate antiporter SLC25A12, mitochondrialaraceli hiperlargaaspartate/glutamate carrier 1calcium binding mitochondrial carrier superfamily member Aralar1calcium-binding mitochondrial carrier protein Aralar1mitochondrial aspar
Modification date20240407
UniProtAcc

O75746


check button Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
GeneSLC25A12

GO:0000514

3-sulfino-L-alanine: proton, glutamate antiporter activity

11566871

GeneSLC25A12

GO:0000515

aspartate:glutamate, proton antiporter activity

11566871|24515575

GeneSLC25A12

GO:0005509

calcium ion binding

9722566|25410934

GeneSLC25A12

GO:0005739

mitochondrion

9722566|11566871|19641205|24515575

GeneSLC25A12

GO:0005743

mitochondrial inner membrane

11566871

GeneSLC25A12

GO:0015810

aspartate transmembrane transport

11566871|19641205|24515575

GeneSLC25A12

GO:0015813

L-glutamate transmembrane transport

11566871|19641205|24515575

GeneSLC25A12

GO:0042802

identical protein binding

25410934

GeneSLC25A12

GO:0043490

malate-aspartate shuttle

11566871

GeneSLC25A12

GO:0051592

response to calcium ion

11566871



AS Summary

check button Information of the canonical protein with experimentally identified structure from PDB (2023).
UniProt AccFile namePDB IDMethodResolutionChainStartEnd
O75746-1O75746-1_4p60_B.pdb4P60X-ray2.4B17308

check button ASpdb's canonical and alternatively spliced isoform information.
accession_idgene_namecanonical_idalternative_idcanonical_lengthalternative_lengthcanonical_startcanonical_endtypeoriginalSEQvariationSEQalternative_startalternative_end
O75746SLC25A12O75746-1O75746-26785711108SubstitutionMAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLLAGVADQTKDGLISYQEFLAFESVLCAPDSMFIVAFQLFDKSGNGEVTFM11

check buttonMultiple sequence alignment of our canonical and alternatively spliced SLC25A12

check button Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of SLC25A12
UniProt-idENSGENSTENSP
O75746-1ENSG00000115840.14ENST00000422440.7ENSP00000388658.2
O75746-1ENSG00000292099.1ENST00000709717.1ENSP00000517838.1

UniProt-idNM IDNP ID
O75746-1NM_003705.4NP_003696.2

check buttonAmino acid sequences of our canonical and alternatively spliced SLC25A12
accession_idProtein sequence
O75746-1MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLLAGVADQTKDGLISYQEFLAFESVLCAPDSM
FIVAFQLFDKSGNGEVTFENVKEIFGQTIIHHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLEHARQAFALKDKSKSGMISGL
DFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLAGTRKDVEVTKEEFAQSAIRYGQVTPLEIDI
LYQLADLYNASGRLTLADIERIAPLAEGALPYNLAELQRQQSPGLGRPIWLQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGS
GSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVNDFVRDKFTRRDGSVPLPAEVLAGGCAGGSQVIFTNPLEIV
KIRLQVAGEITTGPRVSALNVLRDLGIFGLYKGAKACFLRDIPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPAD
VIKTRLQVAARAGQTTYSGVIDCFRKILREEGPSAFWKGTAARVFRSSPQFGVTLVTYELLQRWFYIDFGGLKPAGSEPTPKSRIADLPP
O75746-2MENVKEIFGQTIIHHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLEHARQAFALKDKSKSGMISGLDFSDIMVTIRSHMLTPF
VEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLAGTRKDVEVTKEEFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLA
DIERIAPLAEGALPYNLAELQRQQSPGLGRPIWLQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGSGSVVGELMYKNSFDCFK
KVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVNDFVRDKFTRRDGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVS
ALNVLRDLGIFGLYKGAKACFLRDIPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPADVIKTRLQVAARAGQTTY
SGVIDCFRKILREEGPSAFWKGTAARVFRSSPQFGVTLVTYELLQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYRLATATFA

Protein Functional Features

check buttonMain function of this protein. (from UniProt)
SLC25A12 (go to UniProt):O75746

check buttonRetention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
Accession_idSubsectionStartEndFuncitonal featureSplicing information
O75746Topological domain2329Note=Mitochondrial intermembrane;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11566871;Dbxref=PMID:11566871Type=Substitution;Start=1;End=108
O75746Domain6576Note=EF-hand 1;Ontology_term=ECO:0000305;evidence=ECO:0000305Type=Substitution;Start=1;End=108
O75746Domain86121Note=EF-hand 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448Type=Substitution;Start=1;End=108
O75746Region2294Note=Regulatory N-terminal domain;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:25410934;Dbxref=PMID:25410934Type=Substitution;Start=1;End=108


Gene Isoform Structures and Expression Levels for SLC25A12

check buttonGene structures of our canonical and alternative spliced genes of SLC25A12
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
gene isoform structure of SLC25A12

check button Expression levels of gene isoforms across GTEx.
gtex expression

check button Expression levels of gene isoforms across TCGA.
tcga expression


Protein Structures

check button PDB and CIF files of the predicted protein structures
* Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
3D view using mol* of O75746-1
3D view using mol* of O75746-2


pLDDT Score Distribution

check button pLDDT score distribution of the predicted protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
pLDDT distribution across the protein length of O75746-1
all structure
pLDDT distribution across the protein length of O75746-2
all structure


Ramachandran Plot of Protein Structures


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide.
Ramachandran plot of O75746-1
all structure
Ramachandran plot of O75746-2
all structure

Potential Active Site Information


check button The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite.
UniProt-idSite scoreSizeD scoreVolumeExposureEnclosureContactPhobicPhilicBalanceDon/AccResidues
O75746-11.1062031.084700.0630.4890.8561.0751.0991.1340.9680.465329,330,333,334,336,337,340,341,344,348,351,352,35
5,394,395,398,402,403,406,407,440,441,444,445,447,
448,451,452,455,487,490,491,494,495,498,499,525,53
3,536,540,543,544,583,586,587,588,590,591,594,595,
598
O75746-21.0622321.075782.040.5350.7910.9950.8791.0420.8440.633222,223,226,227,229,230,234,241,244,245,287,288,29
1,292,295,296,299,300,333,337,340,341,344,345,383,
384,387,388,391,392,411,414,418,426,433,476,479,48
0,483,484,487,488,491,492,495,496,499,506,507,508,
509,510,511

Protein Structure and Feature Comparision


check button Protein Structure Comparision Using Template Modeling Scores (TM-score).
all structure

check button Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green)
3D view using mol* of O75746-1_O75746-1_4p60_B.pdb

check button Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green)
3D view using mol* of O75746-1_4p60_B_O75746-2.pdb

check button Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green)
3D view using mol* of O75746-1_O75746-2.pdb

check button Protein Feature Comparison of the protein sequendary structures among the protiens.
./stats/secondary_structure/figure/O75746-1_vs_O75746-2.png
all structure<

check button Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.
./stats/relative_asa/O75746-1_vs_O75746-2.png
all structure<


Protein-Protein Interaction


check button Interactors from UniProt.
Accession_idSubsectionStartEndFuncitonal featureSplicing information


check button Interactors from STRING.
Gene nameInteractors


Related Drugs to SLC25A12


check button Drugs targeting this gene/protein.
(DrugBank)
UniProt accessionGene nameDrugBank IDDrug nameDrug groupActions
O75746SLC25A12DB00128Aspartic acidapproved, nutraceutical

Related Diseases to SLC25A12


check button Previous studies relating to the alternative splicing of SLC25A12 and disease information from the MeSH term (PubMed)
GenePMIDTitleAbstractMeSH IDMeSH term


Clinically important variants in SLC25A12


check button (ClinVar, 04/20/2024)
accession_iduniprot_idgene_nameTypeVariantClinical_significance